Linked Data
dbSNP Id:
rs369286365
ExAC:
9:12702357 G / A
gnomAD v2:
9-12702357-G-A
gnomAD v3:
9-12702357-G-A
gnomAD v4:
9-12702357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702357G>A , CM000671.2:g.12702357G>A | GRCh38 |
| NC_000009.11:g.12702357G>A , CM000671.1:g.12702357G>A | GRCh37 |
| NC_000009.10:g.12692357G>A | NCBI36 |
| NG_011705.1:g.13972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1000G>A (TYRP1) MANE Select | ENSP00000373570.4:p.Ala334Thr | |
| ENST00000381136.2:c.130G>A (TYRP1) | ENSP00000370528.2:p.Ala44Thr | |
| ENST00000381142.3:n.237G>A (TYRP1) | ||
| ENST00000388918.9:c.1000G>A (TYRP1) | ENSP00000373570.4:p.Ala334Thr | |
| ENST00000470909.1:n.258G>A (TYRP1) | ||
| NM_000550.2:c.1000G>A (TYRP1) | NP_000541.1:p.Ala334Thr | |
| NR_125775.1:n.317-1731C>T (LURAP1L-AS1) | ||
| XR_001746372.2:n.984G>A (TYRP1) | ||
| NM_000550.3:c.1000G>A (TYRP1) MANE Select | NP_000541.1:p.Ala334Thr |